Incidental Mutation 'R5181:Kif9'
| ID |
397555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif9
|
| Ensembl Gene |
ENSMUSG00000032489 |
| Gene Name |
kinesin family member 9 |
| Synonyms |
|
| MMRRC Submission |
042761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R5181 (G1)
|
| Quality Score |
193 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110476958-110525179 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110521268 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 742
(D742E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061155]
[ENSMUST00000084952]
[ENSMUST00000197248]
[ENSMUST00000198043]
|
| AlphaFold |
Q9WV04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061155
AA Change: D742E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057896
Gene: ENSMUSG00000032489
AA Change: D742E
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
4 |
348 |
1.25e-120 |
SMART |
|
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
|
Blast:KISc
|
372 |
608 |
7e-19 |
BLAST |
|
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084952
AA Change: D742E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082016
Gene: ENSMUSG00000032489
AA Change: D742E
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
4 |
348 |
1.25e-120 |
SMART |
|
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
|
Blast:KISc
|
372 |
608 |
7e-19 |
BLAST |
|
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197248
AA Change: D742E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142734
Gene: ENSMUSG00000032489
AA Change: D742E
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
4 |
348 |
1.25e-120 |
SMART |
|
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
|
Blast:KISc
|
372 |
608 |
6e-19 |
BLAST |
|
low complexity region
|
651 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198043
|
| SMART Domains |
Protein: ENSMUSP00000142689
Gene: ENSMUSG00000032489
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
4 |
348 |
1.25e-120 |
SMART |
|
low complexity region
|
359 |
371 |
N/A |
INTRINSIC |
|
Blast:KISc
|
372 |
476 |
5e-14 |
BLAST |
|
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0832 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,714,937 (GRCm38) |
D642E |
probably benign |
Het |
| Anxa2 |
T |
C |
9: 69,476,065 (GRCm38) |
V54A |
probably benign |
Het |
| Ccnb1 |
C |
G |
13: 100,781,775 (GRCm38) |
Q121H |
possibly damaging |
Het |
| Cdca2 |
A |
G |
14: 67,680,165 (GRCm38) |
S595P |
probably damaging |
Het |
| Cenpe |
G |
A |
3: 135,242,303 (GRCm38) |
E1208K |
probably damaging |
Het |
| Cfh |
T |
C |
1: 140,147,646 (GRCm38) |
|
probably benign |
Het |
| Colq |
T |
A |
14: 31,557,842 (GRCm38) |
H9L |
probably benign |
Het |
| Coq8b |
T |
C |
7: 27,252,322 (GRCm38) |
I403T |
possibly damaging |
Het |
| Cyrib |
T |
A |
15: 63,938,677 (GRCm38) |
M234L |
probably damaging |
Het |
| Dcdc2a |
C |
A |
13: 25,202,364 (GRCm38) |
T407K |
possibly damaging |
Het |
| Gask1b |
A |
T |
3: 79,886,311 (GRCm38) |
S29C |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,559,104 (GRCm38) |
K89* |
probably null |
Het |
| Inpp5f |
A |
G |
7: 128,679,831 (GRCm38) |
T519A |
probably damaging |
Het |
| Isl2 |
G |
T |
9: 55,542,277 (GRCm38) |
R79L |
probably benign |
Het |
| Lgi2 |
T |
A |
5: 52,554,450 (GRCm38) |
K176M |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,669,198 (GRCm38) |
L351I |
probably benign |
Het |
| Lrch4 |
A |
G |
5: 137,629,403 (GRCm38) |
D66G |
probably damaging |
Het |
| Milr1 |
G |
A |
11: 106,754,980 (GRCm38) |
G116D |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,932,623 (GRCm38) |
D1397G |
possibly damaging |
Het |
| Neurod2 |
T |
C |
11: 98,327,378 (GRCm38) |
H320R |
probably benign |
Het |
| Nox3 |
A |
T |
17: 3,635,286 (GRCm38) |
Y562* |
probably null |
Het |
| Nrap |
G |
A |
19: 56,345,528 (GRCm38) |
H884Y |
possibly damaging |
Het |
| Odad4 |
G |
A |
11: 100,549,893 (GRCm38) |
D67N |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,481,255 (GRCm38) |
|
probably null |
Het |
| Pgm2l1 |
G |
A |
7: 100,261,758 (GRCm38) |
C303Y |
probably benign |
Het |
| Phip |
A |
G |
9: 82,871,190 (GRCm38) |
|
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,516,997 (GRCm38) |
I228T |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 143,134,966 (GRCm38) |
S585P |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,649,546 (GRCm38) |
I718T |
probably damaging |
Het |
| Rpp40 |
T |
C |
13: 35,896,712 (GRCm38) |
|
probably null |
Het |
| Skic2 |
T |
C |
17: 34,844,826 (GRCm38) |
D547G |
probably benign |
Het |
| Slc22a22 |
T |
A |
15: 57,255,123 (GRCm38) |
Y264F |
probably benign |
Het |
| Slc5a4b |
A |
T |
10: 76,060,387 (GRCm38) |
L578* |
probably null |
Het |
| Sptan1 |
A |
T |
2: 29,993,724 (GRCm38) |
|
probably benign |
Het |
| St5 |
T |
C |
7: 109,556,790 (GRCm38) |
Y251C |
probably benign |
Het |
| Sult2a4 |
T |
G |
7: 13,988,391 (GRCm38) |
I50L |
probably benign |
Het |
| Taar6 |
T |
C |
10: 23,984,785 (GRCm38) |
T288A |
possibly damaging |
Het |
| Tmem71 |
C |
T |
15: 66,555,214 (GRCm38) |
S44N |
probably benign |
Het |
| Tmem98 |
T |
C |
11: 80,819,932 (GRCm38) |
V139A |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,967,754 (GRCm38) |
Y703H |
probably benign |
Het |
| Ttc34 |
A |
G |
4: 154,862,246 (GRCm38) |
T868A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,834,881 (GRCm38) |
|
probably benign |
Het |
| Vipas39 |
A |
T |
12: 87,239,827 (GRCm38) |
W470R |
probably damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,676,741 (GRCm38) |
Y117H |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,571,020 (GRCm38) |
N335S |
possibly damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,559,179 (GRCm38) |
Y697H |
probably damaging |
Het |
| Wnk4 |
C |
A |
11: 101,265,377 (GRCm38) |
R461S |
probably damaging |
Het |
| Xylb |
T |
A |
9: 119,364,501 (GRCm38) |
L87Q |
probably damaging |
Het |
| Zcchc9 |
T |
A |
13: 91,797,162 (GRCm38) |
K101* |
probably null |
Het |
| Zfp503 |
C |
A |
14: 21,985,637 (GRCm38) |
A404S |
probably benign |
Het |
| Zhx1 |
C |
G |
15: 58,054,074 (GRCm38) |
G259R |
probably damaging |
Het |
|
| Other mutations in Kif9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01630:Kif9
|
APN |
9 |
110,485,070 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02273:Kif9
|
APN |
9 |
110,510,470 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02818:Kif9
|
APN |
9 |
110,485,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0034:Kif9
|
UTSW |
9 |
110,519,611 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0034:Kif9
|
UTSW |
9 |
110,519,611 (GRCm38) |
missense |
probably benign |
0.23 |
|
R0047:Kif9
|
UTSW |
9 |
110,485,038 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0047:Kif9
|
UTSW |
9 |
110,485,038 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0137:Kif9
|
UTSW |
9 |
110,485,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0594:Kif9
|
UTSW |
9 |
110,511,340 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1503:Kif9
|
UTSW |
9 |
110,510,438 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1657:Kif9
|
UTSW |
9 |
110,489,966 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1826:Kif9
|
UTSW |
9 |
110,517,633 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1856:Kif9
|
UTSW |
9 |
110,517,719 (GRCm38) |
missense |
probably null |
1.00 |
|
R2076:Kif9
|
UTSW |
9 |
110,485,032 (GRCm38) |
splice site |
probably null |
|
|
R3407:Kif9
|
UTSW |
9 |
110,519,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4247:Kif9
|
UTSW |
9 |
110,495,959 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4487:Kif9
|
UTSW |
9 |
110,494,484 (GRCm38) |
missense |
probably null |
1.00 |
|
R4515:Kif9
|
UTSW |
9 |
110,489,867 (GRCm38) |
missense |
probably benign |
0.38 |
|
R4880:Kif9
|
UTSW |
9 |
110,501,635 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5024:Kif9
|
UTSW |
9 |
110,483,093 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R5093:Kif9
|
UTSW |
9 |
110,489,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5362:Kif9
|
UTSW |
9 |
110,489,944 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5379:Kif9
|
UTSW |
9 |
110,521,303 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5628:Kif9
|
UTSW |
9 |
110,514,553 (GRCm38) |
nonsense |
probably null |
|
|
R5653:Kif9
|
UTSW |
9 |
110,524,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5698:Kif9
|
UTSW |
9 |
110,510,464 (GRCm38) |
missense |
probably benign |
|
|
R5758:Kif9
|
UTSW |
9 |
110,489,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5986:Kif9
|
UTSW |
9 |
110,490,026 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6103:Kif9
|
UTSW |
9 |
110,489,849 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6247:Kif9
|
UTSW |
9 |
110,488,544 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6255:Kif9
|
UTSW |
9 |
110,517,834 (GRCm38) |
splice site |
probably null |
|
|
R6991:Kif9
|
UTSW |
9 |
110,494,622 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7113:Kif9
|
UTSW |
9 |
110,506,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7459:Kif9
|
UTSW |
9 |
110,519,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7593:Kif9
|
UTSW |
9 |
110,521,353 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R7892:Kif9
|
UTSW |
9 |
110,514,614 (GRCm38) |
missense |
not run |
|
|
R8050:Kif9
|
UTSW |
9 |
110,519,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8370:Kif9
|
UTSW |
9 |
110,488,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8549:Kif9
|
UTSW |
9 |
110,514,419 (GRCm38) |
splice site |
probably null |
|
|
R8751:Kif9
|
UTSW |
9 |
110,501,656 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8830:Kif9
|
UTSW |
9 |
110,524,930 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9489:Kif9
|
UTSW |
9 |
110,517,642 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9519:Kif9
|
UTSW |
9 |
110,521,276 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9605:Kif9
|
UTSW |
9 |
110,517,642 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9776:Kif9
|
UTSW |
9 |
110,521,330 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTTCTGCAGTGCCCAGG -3'
(R):5'- AATCTTCCTGGGCTGGTACC -3'
Sequencing Primer
(F):5'- AGGTGGCCCTTACAGAGG -3'
(R):5'- ACACCCTGTGCCTATCTAATGGAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation